Advances in diagnosis and treatment of limb-girdle muscular dystrophy

Abstract

Limb - girdle muscular dystrophy (LGMD) is a group of disorders caused by gene mutations, with proximal muscle weakness as their main manifestation. Although various subtypes of LGMD share the common feature, heterogenity exist both in clinical phenotype and genetic defects. The diagnosis should be based on the combination of the clinical symptoms, muscle imaging findings, myo-pathological changes and genetic testing. Multi - discipline management is currently for patients. There has been progress in the diagnosis and treatment of LGMD worldwide in recent years. This review will summarize the advances in the LGMD diagnosis, treatment as well as clinical features of different subtypes of LGMD in order to improve the understanding of LGMD.

DOI: 10.3969/j.issn.1672-6731.2017.08.005